{"orpha":3180,"name":"Spondylocamptodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3180/","orphanet_url":"https://www.orpha.net/en/disease/detail/3180","names":{"fr":{"name":"Syndrome spondylo-camptodactylie","definition":"Syndrome spondylodysplasique rare caractérisé par une camptodactylie, une platyspondylie cervicale et une scoliose thoracique de degré variable. Aucun nouveau cas n'a été rapporté dans la littérature depuis 1995."},"de":{"name":"Spondylo-Kamptodaktylie-Syndrom","definition":"Ein seltenes spondylodysplastisches Syndrom, das durch Kamptodaktylie, zervikale Platyspondylie und Thoraxskoliose unterschiedlichen Grades gekennzeichnet ist. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome espondilo-camptodactilia","definition":"Es un síndrome espondilodisplásico poco frecuente caracterizado por camptodactilia, platispondilia cervical y grados variables de escoliosis torácica. No se han descrito nuevos casos en la literatura desde 1995."},"it":{"name":"Sindrome spondilo-camptodattilia"},"nl":{"name":"Spondylocamptodactylie-syndroom","definition":"Een zeldzaam spondylodysplastisch syndroom, gekenmerkt door camptodactylie, cervicale platyspondylie, en variabele gradaties van thoracale scoliose. Sinds 1995 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de espondilocamptodactilia","definition":"Síndrome espondilodisplásica rara caracterizada por camptodactilia, platispondilia cervical e graus variáveis &#8203;&#8203;de escoliose torácica. Não houve mais descrições na literatura desde 1995."},"pl":{"name":"Zespół kamptodaktylii z platyspondylią","definition":"Rzadki zespół spondylodysplastyczny charakteryzujący się kamptodaktylią, spłaszczeniem kręgów szyjnych i skoliozą piersiową o różnym stopniu nasilenia. Od 1995 roku nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom spondylokamptodaktylie"},"uk":{"name":"Синдром спондилокампотодактилії","definition":"A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995."},"zh":{"name":"先天性脊椎指屈曲"},"tr":{"name":"Spondiloamptodaktili sendrom"}},"xrefs":[{"source":"OMIM","code":"600000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010801","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274762","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8591666[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8591666[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null}]}}